Canonical Allele Identifier: CA987518
Gene: CELSR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2525434
ClinVar RCV Id: RCV004302427
dbSNP Id: rs769062463
ExAC: 1:109807095 C / T
gnomAD v2: 1-109807095-C-T
gnomAD v3: 1-109264473-C-T
gnomAD v4: 1-109264473-C-T
MyVariant Identifiers: chr1:g.109807095C>T (hg19) chr1:g.109264473C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109264473C>T , CM000663.2:g.109264473C>T GRCh38
NC_000001.10:g.109807095C>T , CM000663.1:g.109807095C>T GRCh37
NC_000001.9:g.109608618C>T NCBI36
NG_052669.1:g.19769C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000271332.4:c.5309C>T MANE Select ENSP00000271332.3:p.Thr1770Met
ENST00000271332.3:c.5309C>T ENSP00000271332.3:p.Thr1770Met
NM_001408.2:c.5309C>T NP_001399.1:p.Thr1770Met
XM_005270580.3:c.5309C>T XP_005270637.1:p.Thr1770Met
NM_001408.3:c.5309C>T MANE Select NP_001399.1:p.Thr1770Met
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